Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
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CASE REPORT
Open Access
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation Ettore Piro1* , Ingrid Anne Mandy Schierz1, Vincenzo Antona1, Maria Pia Pappalardo2, Mario Giuffrè1, Gregorio Serra1 and Giovanni Corsello1
Abstract Background: Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. Patient presentation: We report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dysmorphisms, neonatal hypotonia, and cerebellar vermis hypoplasia raised suspicion of Kabuki syndrome. Hyperinsulinemic hypoglycemia was confirmed with glucagon test and whole-exome sequencing (WES) found a novel heterozygous splicing-site mutation (c.674-1G > A) in KMT2D gene. Hyperinsulinemic hypoglycemia was successfully treated with diazoxide. At 3 months corrected age for prematurity, a mild global neurodevelopmental delay, postnatal weight and occipitofrontal circumference growth failure were reported. Conclusions: Kabuki syndrome should be considered when facing neonatal persistent hypoglycemia. Diazoxide may help to improve hyperinsulinemic hypoglycemia. A multidisciplinary and individualized follow-up should be carried out for early diagnosis and treatment of severe pathological associated conditions. Keywords: Facial dysmorphism, Neonatal hypoglycemia, Hyperinsulinism, Neonatal hypotonia, Nervous system malformation
Introduction The Pediatric Endocrine Society suggests a plasma glucose concentration of 50 mg/dL (2.8 mmol/L), corresponding to 45 mg/dL in whole blood, or less as an appropriate threshold to trigger further diagnostic testing in a child less than 48 h old, and 60 mg/dL (3.3 mmol/L) corresponding to 50 mg/dL in whole blood, or less after 48 h of age [1]. Neonatal hypoglycemia is generally defined as a blood glucose * Correspondence: [email protected] 1 Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University Hospital “P.Giaccone”, University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy Full list of author information is available at the end of the article
value less than 40 mg/dL (2.2 mmol/L) [2]. Hyperinsulinism can be suspected when the plasma insulin concentration is inappropriately normal or elevated for the level of hypoglycemia, and plasma urine ketones as well as free fatty acids are low. In addition, this condition should also be suspected when there is a glycemic response to glucagon at the time of hypoglycemia [3]. Neonatal hyperinsu
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